Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.
Bajia D et al.
Cells, 2022
Designing Myeloid Gene Panels.
Zhao F et al.
Archives of Pathology & Laboratory Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The molecular functions of RIT1 and its contribution to human disease.
Van R et al.
The Biochemical Journal, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Takahara S et al.
Ebiomedicine, 2019
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy.
Cai J et al.
Ebiomedicine, 2019
RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P et al.
Science (new York, N.y.), 2019
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
Ramond F et al.
European Journal of Medical Genetics, 2017
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H et al.
European Journal of Human Genetics : Ejhg, 2016
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
Fang Z et al.
The Journal of Biological Chemistry, 2016
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Milosavljević D et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
Koenighofer M et al.
Clinical Genetics, 2016
RASopathies: unraveling mechanisms with animal models.
Jindal GA et al.
Disease Models & Mechanisms, 2015
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR et al.
American Journal of Medical Genetics. Part A, 2014
Oncogenic RIT1 mutations in lung adenocarcinoma.
Berger AH et al.
Oncogene, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y et al.
American Journal of Human Genetics, 2013